Variant report

Variant	nsv520487
Chromosome Location	chr4:69083953-69095197
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:122)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr4:69093019-69093284	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr4:69086517-69086666	K562	blood:	n/a	n/a
3	CTCF	chr4:69093640-69093790	GM12867	blood:	n/a	n/a
4	CUX1	chr4:69094758-69095035	K562	blood:	n/a	n/a
5	CUX1	chr4:69094812-69094954	GM12878	blood:	n/a	n/a
6	FOS	chr4:69083797-69084101	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
7	FOS	chr4:69083875-69084084	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
8	FOS	chr4:69083789-69084101	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
9	FOS	chr4:69083799-69084110	MCF10A-Er-Src	breast:	n/a	chr4:69083968-69083979 chr4:69083954-69083962 chr4:69083952-69083964
10	GTF2F1	chr4:69084062-69084217	H1-hESC	embryonic stem cell:	n/a	n/a
11	JUND	chr4:69092394-69092663	HepG2	liver:	n/a	n/a
12	JUND	chr4:69086518-69086793	HepG2	liver:	n/a	n/a
13	MAFF	chr4:69090792-69090824	HepG2	liver:	n/a	n/a
14	MAFK	chr4:69090740-69090805	HepG2	liver:	n/a	chr4:69090767-69090778
15	POLR2A	chr4:69088902-69088957	MCF10A-Er-Src	breast:	n/a	n/a
16	POLR2A	chr4:69094274-69094716	H1-neurons	neurons:	n/a	n/a
17	POLR2A	chr4:69085264-69085321	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:69094277-69094747	H1-neurons	neurons:	n/a	n/a
19	REST	chr4:69093993-69095015	H1-neurons	neurons:	n/a	n/a
20	REST	chr4:69094180-69094914	H1-neurons	neurons:	n/a	n/a
21	TCF7L2	chr4:69088824-69089063	HepG2	liver:	n/a	n/a
22	ZNF384	chr4:69088371-69088388	GM12878	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:69084723-69084773	GM06990	blood:	n/a
2	chr4:69084723-69084773	A549	lung:	n/a
3	chr4:69093675-69093725	Hepatocyte	liver:	n/a
4	chr4:69093675-69093725	LNCaP	prostate:	n/a
5	chr4:69093675-69093725	SK-N-SH_RA	brain:	n/a
6	chr4:69084723-69084773	BE2_C	brain:	n/a
7	chr4:69093675-69093725	HCPEpiC	choroid plexus:	n/a
8	chr4:69093675-69093725	SKMC	muscle:	n/a
9	chr4:69093675-69093725	SK-N-MC	brain:	n/a
10	chr4:69093675-69093725	IMR90	lung:	fetal
11	chr4:69093675-69093725	Jurkat	blood:	n/a
12	chr4:69093675-69093725	Caco-2	colon:	n/a
13	chr4:69084723-69084773	HRE	kidney:	n/a
14	chr4:69093675-69093725	AG04450	lung:	fetal
15	chr4:69093675-69093725	CMK	blood:	n/a
16	chr4:69084723-69084773	Hepatocyte	liver:	n/a
17	chr4:69084723-69084773	ProgFib	skin:	n/a
18	chr4:69093675-69093725	ovcar-3	ovarian:	n/a
19	chr4:69093675-69093725	PFSK-1	brain:	n/a
20	chr4:69084723-69084773	IMR90	lung:	fetal
21	chr4:69084723-69084773	CMK	blood:	n/a
22	chr4:69093675-69093725	HIPEpiC	eye:	n/a
23	chr4:69084723-69084773	HUVEC	blood vessel:	n/a
24	chr4:69093675-69093725	NB4	blood:	n/a
25	chr4:69093675-69093725	HAEpiC	amniotic membrane:	n/a
26	chr4:69093675-69093725	AG10803	skin:	n/a
27	chr4:69093675-69093725	AG09309	skin:	n/a
28	chr4:69084723-69084773	GM12892	blood:	n/a
29	chr4:69084723-69084773	AG04449	skin:	fetal
30	chr4:69084723-69084773	GM12891	blood:	n/a
31	chr4:69093675-69093725	RPTEC	kidney:	n/a
32	chr4:69084723-69084773	PrEC	prostate:	n/a
33	chr4:69093675-69093725	NHDF-neo	bronchial:	n/a
34	chr4:69093675-69093725	HepG2	liver:	n/a
35	chr4:69093675-69093725	NHBE	bronchial:	n/a
36	chr4:69093675-69093725	GM06990	blood:	n/a
37	chr4:69084723-69084773	ECC-1	luminal epithelium:	n/a
38	chr4:69084723-69084773	AG09309	skin:	n/a
39	chr4:69093675-69093725	HCF	heart:	n/a
40	chr4:69084723-69084773	Hela-S3	cervix:	n/a
41	chr4:69084723-69084773	Caco-2	colon:	n/a
42	chr4:69084723-69084773	HEEpiC	esophagus:	n/a
43	chr4:69084723-69084773	U87	brain:	n/a
44	chr4:69093675-69093725	A549	lung:	n/a
45	chr4:69093675-69093725	HRE	kidney:	n/a
46	chr4:69093675-69093725	HEEpiC	esophagus:	n/a
47	chr4:69084723-69084773	PFSK-1	brain:	n/a
48	chr4:69093675-69093725	HL-60	blood:	n/a
49	chr4:69084723-69084773	MCF-7	breast:	n/a
50	chr4:69093675-69093725	AoSMC	blood vessel:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:69087616..69090439-chr4:69090621..69093039,2	K562	blood:
2	chr4:69084812..69087062-chr4:69097475..69100132,2	K562	blood:
3	chr4:69087616..69090439-chr4:69090621..69093039,2	K562	blood:
4	chr4:69078600..69080157-chr4:69085569..69088456,2	MCF-7	breast:

No data

Variant related genes	Relation type
TMPRSS11BNL	TF binding region
ENSG00000250026	TF binding region
TMPRSS11BNL	CpG island
ENSG00000250026	CpG island

Extended variants
information (count: 77 )
Associated
traits (count: 103 )

Variant overlapped rSNPs/rCNVs (count:77 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs12512581	chr4:69083953-69083954	Enhancers	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs539727826	chr4:69083963-69083964	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
3	rs11447187	chr4:69084008-69084009	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
4	rs397792446	chr4:69084010-69084011	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
5	rs139543060	chr4:69084085-69084086	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
6	rs538424606	chr4:69084102-69084103	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
7	rs75942551	chr4:69084118-69084119	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
8	rs145174664	chr4:69084178-69084179	Enhancers	TF binding region	2 gene(s)	Overlapped CNVs	n/a
9	rs190890629	chr4:69084724-69084725	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
10	rs549689898	chr4:69084728-69084729	Inactive region	CpG island	2 gene(s)	Overlapped CNVs	n/a
11	rs376174880	chr4:69085265-69085266	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
12	rs11735405	chr4:69085306-69085307	Inactive region	TF binding region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
13	rs182859300	chr4:69086622-69086623	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
14	rs541681920	chr4:69086625-69086626	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
15	rs535754708	chr4:69086663-69086664	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
16	rs555636570	chr4:69086664-69086665	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
17	rs555252280	chr4:69086681-69086682	Inactive region	TF binding region	2 gene(s)	Overlapped CNVs	n/a
18	rs553101007	chr4:69094040-69094041	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs573540326	chr4:69094112-69094113	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs75738474	chr4:69094116-69094117	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs534939831	chr4:69094126-69094127	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
22	rs370931940	chr4:69094182-69094183	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
23	rs544765793	chr4:69094248-69094249	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
24	rs76640369	chr4:69094259-69094260	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
25	rs7434397	chr4:69094265-69094266	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs545771633	chr4:69094286-69094287	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
27	rs143345956	chr4:69094365-69094366	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
28	rs573175416	chr4:69094373-69094374	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
29	rs542113732	chr4:69094391-69094392	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
30	rs561902039	chr4:69094415-69094416	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
31	rs189903902	chr4:69094446-69094447	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
32	rs75647314	chr4:69094459-69094460	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
33	rs375856240	chr4:69094460-69094461	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
34	rs181158969	chr4:69094466-69094467	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs34044450	chr4:69094472-69094473	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
36	rs368872870	chr4:69094491-69094492	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
37	rs138554652	chr4:69094492-69094493	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
38	rs374890990	chr4:69094504-69094505	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
39	rs2319797	chr4:69094507-69094508	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
40	rs369616775	chr4:69094516-69094517	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
41	rs565709264	chr4:69094534-69094535	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
42	rs368172710	chr4:69094559-69094560	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs201006796	chr4:69094565-69094566	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs2319796	chr4:69094575-69094576	Inactive region	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs373081446	chr4:69094602-69094603	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs563351333	chr4:69094610-69094611	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs374678136	chr4:69094612-69094613	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs373313630	chr4:69094618-69094619	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs112789961	chr4:69094624-69094625	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs370127147	chr4:69094625-69094626	Inactive region	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:103)

Disease	PMID	Source
Gastrointestinal stromal cancer	16982739	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Glioblastoma multiforme	21080181	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Chordoma	21602918	CNVD
HIV/AIDS	22032296	CNVD
Medulloblastoma	21979893	CNVD
Neuroblastoma	18923191	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Breast cancer	21858162	CNVD
Small bowel adenocarcinoma	21586687	CNVD
Gastric cancer	21586687	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Non-small cell lung cancer	21829676	CNVD
Melanoma	18172304	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Lung cancer	18438408	CNVD
Breast cancer	17603634	CNVD
Glioblastoma multiforme	21922591	CNVD
Parkinson disease	21956041	CNVD
Mental retardation	20522426	CNVD
delayed speech	20522426	CNVD
growth disorder	20522426	CNVD
Hepatocellular carcinoma	16750200	CNVD
Myxofibrosarcoma	16751306	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Parkinson disease	18923514	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Cancer	21183584	CNVD
Breast cancer	16272173	CNVD
Multiple myeloma	16616336	CNVD
Colorectal cancer	19359472	CNVD
Malignant mesothelioma	18160781	CNVD
Medulloblastoma	18056178	CNVD
Multiple myeloma	17077331	CNVD
Pleural malignant mesothelioma	18160781	CNVD
Primary mediastinal b-cell lymphoma	17728785	CNVD
Oral squamous cell carcinoma	17134496	CNVD
4q-syndrome	17576883	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Muscular dystrophy	21149563	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Hepatocellular carcinoma	22174799	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Cervical cancer	21062161	CNVD
Metanephric adenoma	20802469	CNVD
Breast cancer	16608533	CNVD
Colorectal cancer	16272173	CNVD
Adenoid cystic carcinoma	18698036	CNVD
Lung cancer	19208797	CNVD
Wilms tumour	21544195	CNVD
Breast cancer	21785460	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Osteoporosis	18992858	CNVD
Basal cell lymphoma	17170743	CNVD
Follicular lymphoma	17170743	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Myelodysplastic syndrome	21251322	CNVD
Multiple myeloma	17550852	CNVD
Graft versus host disease	20877625	CNVD
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Osteoporosis	20877625	CNVD
Osteoporosis	19737800	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Glioblastoma multiforme	21138945	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Oral cancer	21386901	CNVD
Alcoholism	21790672	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
early-passage human iPS cells	21368824	CNVD
small cell lung cancer	20016488	CNVD
Recurrent pregnancy loss	19789632	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD
Non-syndromic sensorineural hearing loss	17289997	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
Schizophrenia	20967226	CNVD
Autism	19287141	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Non-syndromic sensorineural hearing loss	21030649	CNVD
Ollier disease	21235737	CNVD
Autism	21865298	CNVD
Rett syndrome	21593744	CNVD
Urothelial carcinoma	21177765	CNVD
Incontinentia Pigmenti	22033527	CNVD
Oligozoospermia	20877625	CNVD
Sertoli-cell only syndrome	20877625	CNVD
Thoracic aortic aneurysm	21698135	CNVD
Breast cancer	22844521	CNVD
Ovarian cancer	22844521	CNVD
Prostate cancer	22844521	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:5 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:69080400-69084200	Enhancers	HUES48 Cell Line	embryonic stem cell
2	chr4:69082000-69084200	Enhancers	iPS-18 Cell Line	embryonic stem cell
3	chr4:69082200-69084200	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:69083200-69084000	Enhancers	iPS-15b Cell Line	embryonic stem cell
5	chr4:69083400-69084200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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